| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review
|
Faryal, Sanam
|
|
|
64 |
7 |
p.
|
artikel
|
| 2 |
Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort
|
Moretti, Alex
|
|
|
64 |
7 |
p.
|
artikel
|
| 3 |
CEP135 associated primary microcephaly-A rare presentation in early second trimester
|
Nerakh, Gayatri
|
|
|
64 |
7 |
p.
|
artikel
|
| 4 |
Defining the natural history of rare genetic liver diseases: Lessons learned from the NAPPED initiative
|
van Wessel, Daan B.E.
|
|
|
64 |
7 |
p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
|
64 |
7 |
p.
|
artikel
|
| 6 |
Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?
|
Gjerulfsen, Cathrine E.
|
|
|
64 |
7 |
p.
|
artikel
|
| 7 |
Hypospadias in ring X syndrome
|
Elghezal, Hatem
|
|
|
64 |
7 |
p.
|
artikel
|
| 8 |
Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant
|
Alghamdi, Malak
|
|
|
64 |
7 |
p.
|
artikel
|
| 9 |
Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada
|
Cook, Courtney B.
|
|
|
64 |
7 |
p.
|
artikel
|
| 10 |
Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins
|
Kaya, Tugba Barsan
|
|
|
64 |
7 |
p.
|
artikel
|
| 11 |
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis
|
Sait, Haseena
|
|
|
64 |
7 |
p.
|
artikel
|
| 12 |
Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association
|
Lansdon, Lisa A.
|
|
|
64 |
7 |
p.
|
artikel
|
| 13 |
Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings
|
Tüysüz, Beyhan
|
|
|
64 |
7 |
p.
|
artikel
|
| 14 |
TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype
|
Cenni, Camille
|
|
|
64 |
7 |
p.
|
artikel
|
| 15 |
Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families
|
Kolkiran, Abdulkerim
|
|
|
64 |
7 |
p.
|
artikel
|
| 16 |
Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition – An observational study from tertiary neonatal care unit in South India
|
Usha Devi, R.
|
|
|
64 |
7 |
p.
|
artikel
|
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